A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752243



Internal ID12985795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16093520..16163959hg38UCSC Ensembl
Innerchr8:15951029..16021468hg19UCSC Ensembl
Innerchr8:15995400..16065839hg18UCSC Ensembl
Innerchr8:15995400..16065839hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3870440
hg1970440
hg1870440
hg1770440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv249e55
Supporting Variantsessv6981436, essv6987956, essv6981435
SamplesBEC_191
Known GenesMSR1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752243
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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